A naturally occurring rat model of X-linked cone dysfunction.
A naturally occurring rat model of X-linked cone dysfunction.
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DOI：
10.1167/iovs.02-0958
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发表时间：
2003-12
影响因子：
4.4
通讯作者：
Yonghao Gu;Zuoming Zhang;Tan Long;Li Li-Li;Bao-ke Hou;Qun Guo
中科院分区：
文献类型：
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作者：
Yonghao Gu;Zuoming Zhang;Tan Long;Li Li-Li;Bao-ke Hou;Qun Guo
目的描述自然发生的视锥细胞功能丧失大鼠模型的电生理、组织学和遗传学特征。方法采用暗适应和光适应视网膜电图（ERG）评价视网膜功能。光镜下观察视网膜的厚度和结构。免疫细胞化学法检测细胞锥密度。通过与对照雌性大鼠交配确定遗传模式。结果：在患病大鼠中，光适应的ERG几乎不存在，而暗适应的反应是正常的振幅与b波的隐式时间延迟。在光学显微镜水平上，总体视网膜结构正常。对照组和患病大鼠的视锥密度无差异。视锥细胞功能异常作为X连锁性状遗传。结论：一种自发的大鼠突变体被鉴定出明显影响视锥细胞功能，而视杆细胞介导的功能在很大程度上没有受到影响。正常数目的视锥外节的存在表明该缺陷不涉及视锥感光细胞变性。该大鼠模型提供了X连锁视锥细胞功能障碍的模型，并且还可以用于检查大鼠中视杆细胞介导的视觉功能的方面。需要进一步的研究来确定相关的基因。
PURPOSE To describe the electrophysiological, histologic, and hereditary features of a naturally occurring rat model of cone function loss. METHODS Dark- and light-adapted electroretinograms (ERGs) were used to evaluate retinal function. The thickness and architecture of the retina were observed by light microscopy. The cone density was investigated by wholemount immunocytochemistry. The inheritance pattern was defined by mating with control female rats. RESULTS In affected rats, light-adapted ERGs were nearly absent, whereas dark-adapted responses were of normal amplitude with delays in b-wave implicit time. Overall retinal structure was normal at the light microscopic level. There was no difference in cone density between control and affected rats. The cone function abnormality is inherited as an X-linked trait. CONCLUSIONS A spontaneous rat mutant was identified that has markedly affected cone function, whereas rod-mediated function is largely spared. The presence of the normal number of cone outer segments indicates that the defect does not involve cone photoreceptor degeneration. This rat model provides a model of X-linked cone dysfunction, and may also be used to examine aspects of rod-mediated visual function in the rat. Further studies are needed to identify the gene that is involved.